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Aliases for GON7 Gene

Aliases for GON7 Gene

  • GON7, KEOPS Complex Subunit Homolog 2 3 5
  • Chromosome 14 Open Reading Frame 142 2
  • Uncharacterized Protein C14orf142 3
  • EKC/KEOPS Complex Subunit GON7 3
  • C14orf142 3
  • PNAS-127 3

External Ids for GON7 Gene

Previous HGNC Symbols for GON7 Gene

  • C14orf142

Summaries for GON7 Gene

GeneCards Summary for GON7 Gene

GON7 (GON7, KEOPS Complex Subunit Homolog) is a Protein Coding gene.

UniProtKB/Swiss-Prot for GON7 Gene

  • Component of the EKC/KEOPS complex that is required for the formation of a threonylcarbamoyl group on adenosine at position 37 (t(6)A37) in tRNAs that read codons beginning with adenine. The complex is probably involved in the transfer of the threonylcarbamoyl moiety of threonylcarbamoyl-AMP (TC-AMP) to the N6 group of A37. GON7 likely plays a supporting role to the catalytic subunit OSGEP in the complex.

Additional gene information for GON7 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GON7 Gene

Genomics for GON7 Gene

Regulatory Elements for GON7 Gene

Enhancers for GON7 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH14H093205 1.1 ENCODE 7.9 -0.1 -52 3 HDGF PKNOX1 ARID4B SIN3A DMAP1 YBX1 ZNF2 YY1 SLC30A9 ZNF143 TMEM251 MOAP1 GON7 ENSG00000240096
GH14H092723 1.5 FANTOM5 Ensembl ENCODE 1.8 +481.8 481774 3.9 HDAC1 ATF1 THRB RARA FOS ATF7 SMARCA5 ZNF280D HMG20B CEBPB TMEM251 SLC24A4 RIN3 MOAP1 GON7 LGMN GC14P092700
GH14H092846 1.5 FANTOM5 Ensembl ENCODE 1.7 +360.0 360014 1.4 HDAC1 ATF1 BATF TCF12 EGR1 ATF7 RUNX3 CREM IKZF2 JUNB TMEM251 CHGA UNC79 RIN3 MOAP1 BTBD7 GON7 GC14P092880 GC14P092879 GC14P092878
GH14H092784 1.3 FANTOM5 Ensembl ENCODE 1.2 +421.2 421238 1.9 CTCF TAL1 BACH1 ZNF175 FOSL1 TCF12 ZNF766 ZNF316 GATA2 ELK1 TMEM251 GOLGA5 CPSF2 SLC24A4 MOAP1 RIN3 GON7 LGMN
GH14H092866 0.5 FANTOM5 1.9 +340.7 340674 0.3 RBAK NR2F2 TMEM251 BTBD7 TRIP11 UNC79 MOAP1 RIN3 GON7 GC14P092878 GC14P092879 GC14P092880
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around GON7 on UCSC Golden Path with GeneCards custom track

Promoters for GON7 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000072394 -86 2401 HDGF PKNOX1 ARID4B SIN3A FEZF1 YBX1 ZNF2 YY1 SLC30A9 ZNF143

Genomic Locations for GON7 Gene

Genomic Locations for GON7 Gene
chr14:93,202,892-93,207,114
(GRCh38/hg38)
Size:
4,223 bases
Orientation:
Minus strand
chr14:93,669,237-93,673,459
(GRCh37/hg19)

Genomic View for GON7 Gene

Genes around GON7 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GON7 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GON7 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GON7 Gene

Proteins for GON7 Gene

  • Protein details for GON7 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BXV9-GON7_HUMAN
    Recommended name:
    EKC/KEOPS complex subunit GON7
    Protein Accession:
    Q9BXV9
    Secondary Accessions:
    • Q0D2N1
    • Q0P6C4
    • Q3B7W5

    Protein attributes for GON7 Gene

    Size:
    100 amino acids
    Molecular mass:
    10859 Da
    Quaternary structure:
    • Component of the EKC/KEOPS complex composed of at least GON7, TP53RK, TPRKB, OSGEP and LAGE3; the whole complex dimerizes.
    SequenceCaution:
    • Sequence=AAK07544.1; Type=Erroneous translation; Note=Wrong choice of frame.; Evidence={ECO:0000305};

neXtProt entry for GON7 Gene

Post-translational modifications for GON7 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for GON7 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for GON7 Gene

Domains & Families for GON7 Gene

Gene Families for GON7 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for GON7 Gene

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with GON7: view

No data available for Suggested Antigen Peptide Sequences and UniProtKB/Swiss-Prot for GON7 Gene

Function for GON7 Gene

Molecular function for GON7 Gene

UniProtKB/Swiss-Prot Function:
Component of the EKC/KEOPS complex that is required for the formation of a threonylcarbamoyl group on adenosine at position 37 (t(6)A37) in tRNAs that read codons beginning with adenine. The complex is probably involved in the transfer of the threonylcarbamoyl moiety of threonylcarbamoyl-AMP (TC-AMP) to the N6 group of A37. GON7 likely plays a supporting role to the catalytic subunit OSGEP in the complex.

Phenotypes From GWAS Catalog for GON7 Gene

Gene Ontology (GO) - Molecular Function for GON7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 27903914
genes like me logo Genes that share ontologies with GON7: view
genes like me logo Genes that share phenotypes with GON7: view

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for GON7 Gene

Localization for GON7 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GON7 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for GON7 gene
Compartment Confidence
nucleus 5
cytosol 3
extracellular 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoli (2)
  • Nucleus (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for GON7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000408 EKC/KEOPS complex IDA 27903914
GO:0005634 nucleus IEA,IDA 27903914
genes like me logo Genes that share ontologies with GON7: view

Pathways & Interactions for GON7 Gene

No Data Available

Gene Ontology (GO) - Biological Process for GON7 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for GON7 Gene

Drugs & Compounds for GON7 Gene

No Compound Related Data Available

Transcripts for GON7 Gene

mRNA/cDNA for GON7 Gene

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for GON7 Gene

No ASD Table

Relevant External Links for GON7 Gene

GeneLoc Exon Structure for
GON7
ECgene alternative splicing isoforms for
GON7

Expression for GON7 Gene

NURSA nuclear receptor signaling pathways regulating expression of GON7 Gene:

GON7

Evidence on tissue expression from TISSUES for GON7 Gene

  • Nervous system(4.3)
  • Blood(4.1)
  • Liver(4.1)
No Expression Related Data Available

No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for GON7 Gene

Orthologs for GON7 Gene

This gene was present in the common ancestor of mammals.

Orthologs for GON7 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia C14orf142 34
  • 100 (a)
OneToOne
C14H14orf142 33
  • 100 (n)
dog
(Canis familiaris)
Mammalia C8H14orf142 33
  • 85.67 (n)
C14orf142 34
  • 77 (a)
OneToOne
cow
(Bos Taurus)
Mammalia C21H14orf142 34 33
  • 84.67 (n)
OneToOne
mouse
(Mus musculus)
Mammalia AK010878 34 33
  • 77.89 (n)
OneToMany
Gm20604 34
  • 55 (a)
OneToMany
RP24-234J3.4 34
  • 52 (a)
OneToMany
Gon7 16
rat
(Rattus norvegicus)
Mammalia LOC100233176 33
  • 71.82 (n)
oppossum
(Monodelphis domestica)
Mammalia C14orf142 34
  • 38 (a)
OneToOne
Species where no ortholog for GON7 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for GON7 Gene

ENSEMBL:
Gene Tree for GON7 (if available)
TreeFam:
Gene Tree for GON7 (if available)

Paralogs for GON7 Gene

No data available for Paralogs for GON7 Gene

Variants for GON7 Gene

Sequence variations from dbSNP and Humsavar for GON7 Gene

SNP ID Clin Chr 14 pos Sequence Context AA Info Type
rs1000058553 -- 93,208,895(+) TGGGT(G/T)CAAGT intron-variant, upstream-variant-2KB
rs1000334105 -- 93,203,707(+) TTGGC(C/T)GTTTT reference, missense
rs1000623525 -- 93,208,162(+) CTCAC(C/G)CTACA intron-variant, upstream-variant-2KB
rs1001680468 -- 93,202,483(+) TGCTT(C/G)AATCC downstream-variant-500B
rs1001766635 -- 93,208,799(+) TTCAC(-/T)TTTTT intron-variant, upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for GON7 Gene

Variant ID Type Subtype PubMed ID
esv3635357 CNV gain 21293372

Variation tolerance for GON7 Gene

Residual Variation Intolerance Score: 77.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.36; 8.04% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for GON7 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
GON7

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GON7 Gene

Disorders for GON7 Gene

Relevant External Links for GON7

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
GON7
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
GON7

No disorders were found for GON7 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for GON7 Gene

Publications for GON7 Gene

  1. Proteomic analysis of the human KEOPS complex identifies C14ORF142 as a core subunit homologous to yeast Gon7. (PMID: 27903914) Wan LC … Sicheri F (Nucleic acids research 2016) 2 3 4 60
  2. The human EKC/KEOPS complex is recruited to Cullin2 ubiquitin ligases by the human tumour antigen PRAME. (PMID: 22912744) Costessi A … Stunnenberg HG (PloS one 2012) 2 3 60
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 60
  4. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 60
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin EL … Gygi SP (Cell 2015) 3 60

Products for GON7 Gene

Sources for GON7 Gene

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